ClinVar Miner

List of variants reported as likely pathogenic for Propionic acidemia

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ClinVar version:
Total variants: 120
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HGVS dbSNP
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100301460)_(100425731_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.106-1G>A
NM_000282.4(PCCA):c.1065+1G>C
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu) rs1595202534
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del) rs1595202607
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.1540+1G>C rs199604072
NM_000282.4(PCCA):c.1540+2T>A rs1555422449
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.183+1G>A
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.1846-1G>A rs1555298451
NM_000282.4(PCCA):c.1846-1G>T
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1899+2_1899+3insCT
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.2040+1G>T rs1555327732
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2041-2A>G rs776281864
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) rs1241896966
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu) rs1594160545
NM_000282.4(PCCA):c.2103del (p.Thr704fs) rs1555331314
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs) rs1594175453
NM_000282.4(PCCA):c.21del (p.Thr8fs) rs1593996210
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.232-2A>G
NM_000282.4(PCCA):c.232-2A>T
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer) rs1555361758
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp) rs1421021643
NM_000282.4(PCCA):c.637+1G>A
NM_000282.4(PCCA):c.637+2T>A
NM_000282.4(PCCA):c.683G>T (p.Gly228Val) rs1594961620
NM_000282.4(PCCA):c.69_78del (p.Gln23fs) rs781030239
NM_000282.4(PCCA):c.717-2A>G
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu) rs368047060
NM_000282.4(PCCA):c.805C>T (p.His269Tyr)
NM_000282.4(PCCA):c.820-1G>A
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr) rs1595032920
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu) rs1595033018
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000532.5(PCCB):c.1090+2T>C rs1553782779
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1198+1G>A
NM_000532.5(PCCB):c.1198+1_1198+11del
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser) rs1576360539
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.1300-2A>C rs1553784684
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe) rs1576360934
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val) rs1576360976
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs) rs1553784721
NM_000532.5(PCCB):c.1398+1G>T rs794727092
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu)
NM_000532.5(PCCB):c.184-1G>A rs886044246
NM_000532.5(PCCB):c.184-2A>G rs1553774015
NM_000532.5(PCCB):c.196del (p.Ala66fs) rs1553774018
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser) rs1576402832
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) rs398123464
NM_000532.5(PCCB):c.410A>G (p.His137Arg) rs1391142709
NM_000532.5(PCCB):c.429+1G>A rs1317017233
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs) rs1553774884
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.544-2A>G rs752377212
NM_000532.5(PCCB):c.553dup (p.Thr185fs) rs777455573
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs) rs1553777571
NM_000532.5(PCCB):c.649dup (p.Val217fs) rs796052021
NM_000532.5(PCCB):c.654+1G>C rs1553777590
NM_000532.5(PCCB):c.655-2A>G rs796052020
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro) rs1021206121
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710
NM_000532.5(PCCB):c.763+1G>A rs1553778912
NM_000532.5(PCCB):c.763+2T>A rs1553778914
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp) rs774249198
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
NM_000532.5(PCCB):c.884+1G>C rs1553779458
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
NM_000532.5(PCCB):c.885-2A>G rs1553780163
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667
NM_000532.5(PCCB):c.967-2A>C rs1553782747

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